G715S (p.Gly715Ser) variant of COL4A3 (Collagen alpha-3(IV) chain)
G715S (p.Gly715Ser) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alport syndrome; Autosomal dominant Alport syndrome; Hematuria, benign familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G715S (p.Gly715Ser) variant details
- p.Gly715Ser
- rs1196105825
- NCI-TCGA Cosmic COSV6741
- gnomAD rs1196105825
- Likely pathogenic
- Alport syndrome; Autosomal dominant Alport syndrome; Hematuria, benign familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.95
- MetaLR 0.99
- MetaSVM 0.98
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Alport syndrome; Autosomal dominant Alport syndrome; Hematuria,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available